lrrfip1b

Ensembl ID:
ENSDARG00000095170
ZFIN ID:
ZDB-GENE-050208-324
Description:
Novel protein similar to vertebrate leucine rich repeat (In FLII) interacting protein family [Source
Human Orthologue:
LRRFIP1
Human Description:
leucine rich repeat (in FLII) interacting protein 1 [Source:HGNC Symbol;Acc:6702]
Mouse Orthologue:
Lrrfip1
Mouse Description:
leucine rich repeat (in FLII) interacting protein 1 Gene [Source:MGI Symbol;Acc:MGI:1342770]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa5357 Essential Splice Site Mutation detected in F1 DNA During 2014
sa9289 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa5357
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000141597 Essential Splice Site 339 492 12 17
ENSDART00000143502 Essential Splice Site 323 476 11 16
Genomic Location:
Chromosome 6 (position 15437749)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAGAAAAATGGCATCGTGATGGGATCTGAGGTGACAGCCAATGGGAAAG[T/C]WGAAGATGGGGCTATTGATAGRCATGTTRATGCTGAAACAGCCTCTCGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9289
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000141597 Nonsense 413 492 15 17
ENSDART00000143502 Nonsense 397 476 14 16
Genomic Location:
Chromosome 6 (position 15429993)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATGCTAACAGGCAGATCAGTGACCTGAAATTCAAGCTAGTCAAATCTGAA[C/T]AAGAAGTCACAGCACTTGAACAAAATGTAAGTCATGTATAAAATTAAGAC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Adiposity: A Variant in the LRRFIP1 Gene Is Associated With Adiposity and Inflammation. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/nzx4w167